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PNMT phenylethanolamine N-methyltransferase [ Homo sapiens (human) ]

Gene ID: 5409, updated on 7-Apr-2019

Summary

Official Symbol
PNMTprovided by HGNC
Official Full Name
phenylethanolamine N-methyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:9160
See related
Ensembl:ENSG00000141744 MIM:171190
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PENT; PNMTase
Summary
The product of this gene catalyzes the last step of the catecholamine biosynthesis pathway, which methylates norepinephrine to form epinephrine (adrenaline). The enzyme also has beta-carboline 2N-methyltransferase activity. This gene is thought to play a key step in regulating epinephrine production. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]
Expression
Biased expression in adrenal (RPKM 46.5) and fat (RPKM 2.1) See more
Orthologs

Genomic context

See PNMT in Genome Data Viewer
Location:
17q12
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (39667981..39670475)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (37824234..37826728)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene StAR related lipid transfer domain containing 3 Neighboring gene VISTA enhancer hs1769 Neighboring gene titin-cap Neighboring gene post-GPI attachment to proteins 3 Neighboring gene erb-b2 receptor tyrosine kinase 2 Neighboring gene microRNA 4728

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC34570

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phenylethanolamine N-methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phenylethanolamine N-methyltransferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
catecholamine biosynthetic process TAS
Traceable Author Statement
more info
 
epinephrine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
methylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
phenylethanolamine N-methyltransferase
Names
noradrenaline N-methyltransferase
phenylethanolamine N-methylase
NP_002677.1
XP_011523211.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042278.1 RefSeqGene

    Range
    5473..7495
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002686.4NP_002677.1  phenylethanolamine N-methyltransferase

    See identical proteins and their annotated locations for NP_002677.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes a functional protein.
    Source sequence(s)
    BC037246
    Consensus CDS
    CCDS11343.1
    UniProtKB/Swiss-Prot
    P11086
    Related
    ENSP00000269582.2, ENST00000269582.2
    Conserved Domains (1) summary
    pfam01234
    Location:14279
    NNMT_PNMT_TEMT; NNMT/PNMT/TEMT family

RNA

  1. NR_073461.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    BC037246, BG394800

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    39667981..39670475
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524909.2XP_011523211.1  phenylethanolamine N-methyltransferase isoform X1

    UniProtKB/TrEMBL
    A8MT87
    Related
    ENSP00000377791.1, ENST00000394246.1
    Conserved Domains (1) summary
    cl17173
    Location:1181
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
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